19. ライソゾーム病
[臨床試験数:784,薬物数:673(DrugBank:101),標的遺伝子数:68,標的パスウェイ数:184

Searched query = "Lysosomal storage disease", "Lysosomal disease", "Gaucher disease", "Niemann-Pick disease", "Niemann-Pick type C", "GM1-gangliosidosis", "GM1-gangliosidoses", "GM2-gangliosidosis", "GM2-gangliosidoses", "Tay-Sachs disease", "Sandhoff disease", "Krabbe disease", "Metachromatic leukodystrophy", "Multiple-sulfatase deficiency", "Farber disease", "Mucopolysaccharidosis type I", "Mucopolysaccharidosis I", "MPS I", "Hurler syndrome", "Scheie syndrome", "Mucopolysaccharidosis type II", "Mucopolysaccharidosis II", "MPS II", "Hunter syndrome", "Mucopolysaccharidosis type III", "Mucopolysaccharidosis III", "MPS III", "Sanfilippo syndrome", "Mucopolysaccharidosis type IV", "Mucopolysaccharidosis IV", "MPS IV", "MPS IVA", "Morquio syndrome", "Morquio A syndrome", "Mucopolysaccharidosis type VI", "Mucopolysaccharidosis VI", "MPS VI", "Maroteaux-Lamy syndrome", "Mucopolysaccharidosis type VII", "Mucopolysaccharidosis VII", "MPS VII", "Sly syndrome", "Mucopolysaccharidosis type IX", "Mucopolysaccharidosis IX", "MPS IX", "Hyaluronidase deficiency", "Sialidosis", "Galactosialidosis", "Mucolipidosis II", "Mucolipidosis type II", "I-cell disease", "Mucolipidosis III", "Mucolipidosis type III", "Alpha-Mannosidosis", "Alpha-Mannosidase Deficiency", "Beta-Mannosidosis", "Beta-Mannosidase Deficiency", "Fucosidosis", "Aspartylglucosaminuria", "Schindler disease", "Kanzaki disease", "Pompe disease", "Acid lipase deficiency", "Wolman disease", "Cholesterol ester storage disease", "Danon disease", "Free sialic acid storage disease", "Salla disease", "Ceroid lipofuscinosis", "Fabry disease", "Cystinosis"
The queries were searched in Public_title, Scientific_title, and Condition. Export date: 03/15/2021. Trials are sorted by Date_enrollment from most recent to oldest in the table.

Search in Page e.g. "Phase 3", "Not recruiting", "Japan"
62 trials found
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
1NCT04655911
(ClinicalTrials.gov)
January 15, 202117/11/2020A Long-term Follow-up Study of Patients With MPS IIIB Treated With ABO-101A Long-term Follow-up Study of Patients With MPS IIIB From Gene Therapy Clinical Trials Involving the Administration of ABO-101 (rAAV9.CMV.hNAGLU)Mucopolysaccharidosis III-BBiological: ABO-101Abeona Therapeutics, IncNULLNot yet recruitingN/AN/AAll24United States;France;Germany
2JPRN-jRCT2021200023
08/10/202009/10/2020A multinational, randomized, double-blind, placebo-controlled study to assess the efficacy, pharmacodynamics, pharmacokinetics, and safety of venglustat in late onset GM2A multicenter, multinational, randomized, double-blind, placebo-controlled study to assess the efficacy, pharmacodynamics, pharmacokinetics, safety, and tolerability of venglustat in late onset GM2 gangliosidosis (Tay-Sachs disease and Sandhoff disease) together with a separate basket for juvenile/adolescent late onset GM2 gangliosidosis and ultra rare diseases within the same and similar glucosylceramidebased sphingolipid pathway Tay-Sachs Disease, Sandhoff DiseaseDrug: venglustat GZ402671
- Pharmaceutical form: tablet
- Route of administration: oral
Drug: placebo
- Pharmaceutical form: tablet
- Route of administration: oral
Tanaka TomoyukiNULLRecruiting>= 2age oldNot applicableBoth62Phase 3Spain;United States;Brazil;Russian Federation;United Kingdom;Japan
3NCT04360265
(ClinicalTrials.gov)
September 28, 202020/4/2020A Long-term Follow-up Study of Patients With MPS IIIA Treated With ABO-102A Long-term Follow-up Study of Patients With MPS IIIA From Gene Therapy Clinical Trials Involving the Administration of ABO-102 (scAAV9.U1a.hSGSH)Mucopolysaccharidosis III-ABiological: ABO-102Abeona Therapeutics, IncNULLRecruitingN/AN/AAll50United States;Australia;Spain
4NCT04476862
(ClinicalTrials.gov)
August 24, 202015/7/2020Cerliponase Alfa Observational Study in the USCerliponase Alfa Observational StudyLate-Infantile Neuronal Ceroid Lipofuscinosis Type 2Drug: Cerliponase Alfa;Device: Administration KitBioMarin PharmaceuticalNULLNot yet recruitingN/AN/AAll35NULL
5EUCTR2019-002979-34-ES
(EUCTR)
18/05/202025/05/2020A Long-term Follow-up Study of Patients with MPS IIIA from Gene Therapy Clinical Trials Involving the Administration of ABO-102 (scAAV9.U1a.hSGSH)A Long-term Follow-up Study of Patients with MPS IIIA from Gene Therapy Clinical Trials Involving the Administration of ABO-102 (scAAV9.U1a.hSGSH) MPS IIIA is a devastating lysosomal storage disease, caused by a Nsulfoglucosamine sulfohydrolase gene defect. Infants with MPS IIIA appear normal at birth, but the disease is relentlessly progressive, with deterioration of social and adaptive abilities, neurocognitive decline, and premature death. Death typically occurs by end of the second or beginning of the third decade. Quite importantly, there is no treatmentcurrently available for the disease.
MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: scAAV9.U1A.hSGSH
Product Code: ABO-102
INN or Proposed INN: Rebisufligene etisparvovec
Abeona Therapeutics IncNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
34Phase 1;Phase 2Germany;United States;France;Spain;Australia
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
6NCT04539340
(ClinicalTrials.gov)
February 28, 202028/8/2020A Multi-cohort Study of the Tolerance, Safety, and Pharmacokinetics of GNR-055 in Healthy VolunteersAn Open-label Multi-cohort Dose-escalation Study to Evaluate the Tolerance, Safety, and Pharmacokinetics of GNR-055 (GENERIUM JSC, Russia) in Healthy Volunteers With a Single Intravenous AdministrationMucopolysaccharidosis Type II;Metabolic DiseasesBiological: GNR-055AO GENERIUMNULLCompleted18 Years50 YearsMale20Phase 1Russian Federation
7EUCTR2018-000195-15-DE
(EUCTR)
16/12/201922/10/2018An Open-Label study with only one arm of treatment that will be carried out in different international sites of Intracerebral Administration of study drug for the Treatment of Sanfilippo syndrome type AAn Open-Label, Single-Arm, Multicenter Study of Intracerebral Administration of Adeno-Associated Viral Vectors Serotype rh10 Carrying the Human N-sulfoglucosamine sulfohydrolase (SGSH) cDNA for the Treatment of Mucopolysaccharidosis Type IIIA Mucopolysaccharidosis Type IIIA
MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: LYS-SAF302
Product Code: LYS-SAF302
INN or Proposed INN: OLENASUFLIGENE RELDUPARVOVEC
Other descriptive name: LYS-SAF302
Lysogene SANULLNot RecruitingFemale: yes
Male: yes
20Phase 2;Phase 3United States;France;Netherlands;Germany;United Kingdom
8JPRN-JapicCTI-194975
01/10/201927/09/2019An multicenter open-label long-term continuous administration study to investigate the safety and tolerability of lucerastat in Japanese Fabry disease patientsAn multicenter open-label long-term continuous administration study to investigate the safety and tolerability of lucerastat in Japanese Fabry disease patients Fabry diseaseIntervention name : Lucerastat
INN of the intervention : lucerastat
Dosage And administration of the intervention : 1000 mg twice daily
Control intervention name : -
INN of the control intervention : -
Dosage And administration of the control intervention : -
Idorsia Pharmaceuticals Japan LtdNULLother16BOTH20Phase 3Japan
9EUCTR2018-000195-15-GB
(EUCTR)
28/05/201919/09/2018An Open-Label study with only one arm of treatment that will be carried out in different international sites of Intracerebral Administration of study drug for the Treatment of Sanfilippo syndrome type AAn Open-Label, Single-Arm, Multicenter Study of Intracerebral Administration of Adeno-Associated Viral Vectors Serotype rh10 Carrying the Human N-sulfoglucosamine sulfohydrolase (SGSH) cDNA for the Treatment of Mucopolysaccharidosis Type IIIA Mucopolysaccharidosis Type IIIA
MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: LYS-SAF302
Product Code: LYS-SAF302
INN or Proposed INN: OLENASUFLIGENE RELDUPARVOVEC
Other descriptive name: LYS-SAF302
Lysogene SANULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
20Phase 2;Phase 3Germany;United Kingdom;United States;France;Netherlands
10JPRN-JMA-IIA00421
07/05/201926/04/2019Phase II/III Study to Evaluate the Efficacy and Safety of Chaperone Therapy with Ambroxol Hydrochloride (JT408T) in Patients with Neuronopathic Gaucher disease (Japan- Lysosomal Optimization Study: J-LO study)Phase II/III Study to Evaluate the Efficacy and Safety of Chaperone Therapy with Ambroxol Hydrochloride (JT408T) in Patients with Neuronopathic Gaucher disease (Japan- Lysosomal Optimization Study: J-LO study) Neuronopathic Gaucher diseaseIntervention type:DRUG. Intervention1:ADMINISTRATION, Dose form:TABLET, Route of administration:ORAL.Tottori University Hospital, Departrment of Child NeurologyNULLCompletedNo LimitNo LimitBOTH3Phase 2;Phase 3Japan
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
11JPRN-JapicCTI-194731
30/4/201924/04/2019An open-label phase 3 study of lucerastat in Japanese subjects with Fabry diseaseA multicenter, open-label study to determine the efficacy and safety of lucerastat oral therapy in Japanese subjects with Fabry disease Fabry diseaseIntervention name : ACT-434964
INN of the intervention : Lucerastat
Dosage And administration of the intervention : 1000mg twice a day, oral administration
Control intervention name : -
INN of the control intervention : -
Dosage And administration of the control intervention : -
Idorsia Pharmaceuticals Japan LtdNULLcomplete16BOTH20Phase 3Japan
12EUCTR2018-000195-15-NL
(EUCTR)
25/03/201927/09/2018An Open-Label study with only one arm of treatment that will be carried out in different international sites of Intracerebral Administration of study drug for the Treatment of Sanfilippo syndrome type AAn Open-Label, Single-Arm, Multicenter Study of Intracerebral Administration of Adeno-Associated Viral Vectors Serotype rh10 Carrying the Human N-sulfoglucosamine sulfohydrolase (SGSH) cDNA for the Treatment of Mucopolysaccharidosis Type IIIA Mucopolysaccharidosis Type IIIA
MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: LYS-SAF302
Product Code: LYS-SAF302
INN or Proposed INN: olenasufligene relduparvovec
Other descriptive name: LYS-SAF302
Lysogene SANULLNot RecruitingFemale: yes
Male: yes
20Phase 2;Phase 3United States;France;Germany;Netherlands;United Kingdom
13JPRN-JMA-IIA00416
17/01/201911/03/2019A phase 2 open label study to assess the efficacy and safety of beta-glucuronidase enzyme replacement therapy in Japanese patients with mucopolysaccharidosis type VII, Sly diseaseA phase 2 open label study to assess the efficacy and safety of beta-glucuronidase enzyme replacement therapy in Japanese patients with mucopolysaccharidosis type VII, Sly disease Mucopolysaccharidosis type7Intervention type:DRUG. Intervention1:ADMINISTRATION, Dose form:INJECTION, Route of administration:INTRAVENOUS DRIP, intended dose regimen:UX003 will be intravenously administered at dose of 4 mg/kg every other week. UX003 will be sterilely diluted in saline and transferred to infusion bag. Administration of undiluted UX003 is prohibited. The rate of infusion will be determined to administer 2.5% of diluted UX003 for the first one hour and rest of the drug for 3 hours.. Control intervention1:NOT APPLICABLE.Osaka City University HospitalTakashi HamazakiNOT APPLICABLECompleted>=4 YEARS<=40 YEARSBOTH3Phase 2Japan
14EUCTR2017-002158-35-PT
(EUCTR)
14/01/201923/07/2018Study to investigate the fate of odiparcil since its administration up to the point is completely eliminated, its safety and efficacy in patients 16 years and above with mucopolysaccharidosis (MPS) type VIA phase IIa study to investigate safety, pharmacokinetics, and efficacy of odiparcil in patients 16 years and above with mucopolysaccharidosis (MPS) type VI. Mucopolysaccharidosis (MPS) type VI.
MedDRA version: 20.1;Level: PT;Classification code 10056892;Term: Mucopolysaccharidosis VI;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Odiparcil
Product Code: IVA 336
INN or Proposed INN: Odiparcil
Inventiva S.A.NULLNot RecruitingFemale: yes
Male: yes
20Phase 2France;Portugal;Germany;United Kingdom
15EUCTR2018-000195-15-FR
(EUCTR)
27/12/201804/09/2018An Open-Label study with only one arm of treatment that will be carried out in different international sites of Intracerebral Administration of study drug for the Treatment of Sanfilippo syndrome type AAn Open-Label, Single-Arm, Multicenter Study of Intracerebral Administration of Adeno-Associated Viral Vectors Serotype rh10 Carrying the Human N-sulfoglucosamine sulfohydrolase (SGSH) cDNA for the Treatment of Mucopolysaccharidosis Type IIIA Mucopolysaccharidosis Type IIIA
MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Lysogene SANULLAuthorised-recruitment may be ongoing or finished Female: yes
Male: yes
20Phase 2;Phase 3United States;France;Netherlands;Germany;United Kingdom
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
16EUCTR2017-002158-35-DE
(EUCTR)
03/12/201816/08/2017Study to investigate the fate of odiparcil since its administration up to the point is completely eliminated, its safety and efficacy in patients 16 years and above with mucopolysaccharidosis (MPS) type VIA phase IIa study to investigate safety, Pharmacokinetics, and efficacy of odiparcil in patients 16 years and above with mucopolysaccharidosis (MPS) type VI. Mucopolysaccharidosis (MPS) type VI.
MedDRA version: 20.1;Level: PT;Classification code 10056892;Term: Mucopolysaccharidosis VI;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Odiparcil
Product Code: IVA 336
INN or Proposed INN: Odiparcil
Inventiva S.A.NULLNot RecruitingFemale: yes
Male: yes
20Phase 2Portugal;France;Germany;United Kingdom
17EUCTR2017-002158-35-GB
(EUCTR)
16/11/201708/08/2017Study to investigate the fate of odiparcil since its administration up to the point is completely eliminated, its safety and efficacy in patients 16 years and above with mucopolysaccharidosis (MPS) type VIA phase IIa study to investigate safety, Pharmacokinetics, and efficacy of odiparcil in patients 16 years and above with mucopolysaccharidosis (MPS) type VI. Mucopolysaccharidosis (MPS) type VI.
MedDRA version: 20.1;Level: PT;Classification code 10028095;Term: Mucopolysaccharidosis IV;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Inventiva S.A.NULLNot Recruiting Female: yes
Male: yes
20Phase 2Portugal;France;Germany;United Kingdom
18EUCTR2012-003775-20-IT
(EUCTR)
20/03/201715/03/2017A safety and efficacy extension of study HGT-MLD-070 in Children with Metachromatic Leukodystrophy recieving enzyme (HGT-1110) replacement by intrathecal injectionAn Open-label Extension of Study HGT-MLD-070 Evaluating Long Term Safety and Efficacy of Intrathecal Administration of HGT-1110 in Patients with Metachromatic Leukodystrophy Treatment of Metachromatic Leukodystrophy
MedDRA version: 19.1;Level: PT;Classification code 10067609;Term: Metachromatic leukodystrophy;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Code: SHP611
INN or Proposed INN: Not available
Other descriptive name: Recombinant Human Arylsulfatase A (rhASA)
Shire Human Genetics Therapies IncNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
24Phase 1;Phase 2France;Czech Republic;Brazil;Denmark;Australia;Germany;Japan;United Kingdom;Italy
19JPRN-UMIN000023517
2016/10/0101/10/2016A study on the efficacy and safety of cyclodextrin intrathecal long-term administration for Niemann-Pick disease type C Niemann-Pick disease type C2-hydroxypropyl-beta-cyclodextrin (HPBCD) 20mg/kg/dose, every 3-4 weeks, for three yearsNara Medical UniversityNULLPending4years-old6years-oldMale and Female1Not selectedJapan
20JPRN-JMA-IIA00350
29/07/201604/06/2018Phase I/II clinical trial of idursulfase beta for mucopolysaccharidosis type IIPhase I/II clinical trial of idursulfase beta for mucopolysaccharidosis type II Patients at the age between 6 months and 15 years with severe type mucopolysaccharidosis type II intravenously administered isursulfase at least for 24 weeksIntervention type:DRUG. Intervention1:BHP001, Dose form:INJECTION, Route of administration:OTHER.Torayuki OkuyamaHaruo ShintakuCompleted>=6 MONTHS<15 YEARSMale6Phase 1;Phase 2Japan
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
21EUCTR2015-000359-26-ES
(EUCTR)
29/04/201603/02/2016First study in patients to assess safety, tolerability and inittial efficacy of the new gene therapy product to treat MPSIIIA.Phase I/II safety, tolerability and initial efficacy study of adeno-associated viral vector serotype 9 containing human sulfamidase gene after intracerebroventricular administration to patients with MPSIIIA. Mucopolysaccharidosis type IIIA (Sanfilippo A syndrome) is an inherited lysosomal storage disease caused by a specific lysosomal enzyme deficiency that leads to intracellular accumulation of the GAG heparan sulphate (HS). It is caused by a deficiency of one of the four enzymes involved in the lysosomal degradation of HS. In the case of subtype A is the heparan N-sulfatase (SGSH).;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]Product Name: Vector viral adenoasociado de serotipo 9 que contiene el gen de la sulfamidasa humana
Product Code: AAV9-CAG-coh-SGSH
INN or Proposed INN: Vector viral adenoasociado de serotipo 9 que contiene el gen de la sulfamidasa humana
Other descriptive name: Vector viral adenoasociado de serotipo 9 que contiene el gen de la sulfamidasa humana
Laboratorios del Dr. Esteve, S.A.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
Phase 1;Phase 2Spain
22EUCTR2012-003775-20-GB
(EUCTR)
25/04/201606/06/2016A safety and efficacy extension of study HGT-MLD-070 in Children with Metachromatic Leukodystrophy recieving enzyme (HGT-1110) replacement by intrathecal injectionAn Open-label Extension of Study HGT-MLD-070 Evaluating Long Term Safety and Efficacy of Intrathecal Administration of HGT-1110 in Patients with Metachromatic Leukodystrophy Treatment of Metachromatic Leukodystrophy
MedDRA version: 20.0;Level: PT;Classification code 10067609;Term: Metachromatic leukodystrophy;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Code: SHP611
INN or Proposed INN: Not available
Other descriptive name: Recombinant Human Arylsulfatase A (rhASA)
Shire Human Genetics Therapies IncNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
24Phase 1;Phase 2France;Czech Republic;Brazil;Denmark;Australia;Germany;Japan;Italy;United Kingdom
23NCT02156674
(ClinicalTrials.gov)
January 26, 20163/6/2014Naglazyme After Allo Transplant for Maroteaux-Lamy SyndromeStudy of Administration of Intravenous Naglazyme® Following Allogeneic Transplantation for Maroteaux-Lamy SyndromeMaroteaux-Lamy SyndromeDrug: Naglazyme®Masonic Cancer Center, University of MinnesotaBioMarin PharmaceuticalActive, not recruiting3 YearsN/AAll1N/AUnited States
24EUCTR2014-003960-20-IT
(EUCTR)
16/09/201505/11/2020An Extension Study to Evaluate the Safety and Efficacy of HGT-1410 Administration in Pediatric Patients with Sanfilippo Syndrome Type AAn Open-Label Extension of Study HGT-SAN-093 Evaluating the Safety and Efficacy Study of HGT-1410 (Recombinant Human Heparan N Sulfatase) Administration via an Intrathecal Drug Delivery Device in Pediatric Patients with Mucopolysaccharidosis Type IIIA Disease - NA Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA)
MedDRA version: 20.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Recombinant human heparan Nsulfatase (rhHNS)
Product Code: [HGT-1410]
INN or Proposed INN: NA
Other descriptive name: Recombinant human heparan N-sulfatase
SHIRE HUMAN GENETIC THERAPIES, INCNULLNot RecruitingFemale: yes
Male: yes
17Phase 2United States;France;Spain;Netherlands;Germany;United Kingdom;Italy
25EUCTR2014-003960-20-NL
(EUCTR)
18/08/201505/03/2015An Extension Study to Evaluate the Safety and Efficacy of HGT-1410 Administration in Pediatric Patients with Sanfilippo Syndrome Type AAn Open-Label Extension of Study HGT-SAN-093 Evaluating theSafety and Efficacy Study of HGT-1410 (Recombinant HumanHeparan N Sulfatase) Administration via an Intrathecal DrugDelivery Device in Pediatric Patients with MucopolysaccharidosisType IIIA Disease Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA)
MedDRA version: 20.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Recombinant human heparan N-sulfatase (rhHNS)
Product Code: HGT-1410
INN or Proposed INN: Not available
Other descriptive name: Recombinant human heparan N-sulfatase
Shire Human Genetic Therapies, Inc.NULLNot RecruitingFemale: yes
Male: yes
17Phase 2United States;France;Spain;Germany;Netherlands;United Kingdom;Italy
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
26EUCTR2014-003960-20-GB
(EUCTR)
10/08/201501/04/2015An Extension Study to Evaluate the Safety and Efficacy of HGT-1410 Administration in Pediatric Patients with Sanfilippo Syndrome Type A An Open-Label Extension of Study HGT-SAN-093 Evaluating the Safety and Efficacy Study of HGT-1410 (Recombinant Human Heparan N Sulfatase) Administration via an Intrathecal Drug Delivery Device in Pediatric Patients with Mucopolysaccharidosis Type IIIA Disease Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA)
MedDRA version: 19.1;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 19.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Shire Human Genetic Therapies, Inc.NULLNot Recruiting Female: yes
Male: yes
17Phase 2France;United States;Spain;Netherlands;Germany;Italy;United Kingdom
27EUCTR2014-003960-20-DE
(EUCTR)
15/06/201526/01/2015An Extension Study to Evaluate the Safety and Efficacy of HGT-1410 Administration in Pediatric Patients with Sanfilippo Syndrome Type AAn Open-Label Extension of Study HGT-SAN-093 Evaluating theSafety and Efficacy Study of HGT-1410 (Recombinant HumanHeparan N Sulfatase) Administration via an Intrathecal DrugDelivery Device in Pediatric Patients with MucopolysaccharidosisType IIIA Disease Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA)
MedDRA version: 20.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Recombinant human heparan N-sulfatase (rhHNS)
Product Code: HGT-1410
INN or Proposed INN: Not available
Other descriptive name: Recombinant human heparan N-sulfatase
Shire Human Genetic Therapies, Inc.NULLNot RecruitingFemale: yes
Male: yes
17Phase 2France;United States;Spain;Netherlands;Germany;Italy;United Kingdom
28NCT02350816
(ClinicalTrials.gov)
April 8, 201521/1/2015An Extension Study to Determine Safety and Efficacy for Pediatric Patients With MPS Type IIIA Disease Who Participated in Study HGT-SAN-093.An Open-Label Extension of Study HGT-SAN-093 Evaluating the Safety and Efficacy Study of HGT-1410 (Recombinant Human Heparan N Sulfatase) Administration Via an Intrathecal Drug Delivery Device in Pediatric Patients With Mucopolysaccharidosis Type IIIA DiseaseSanfilippo Syndrome;Mucopolysaccharidosis (MPS)Drug: HGT-1410ShireNULLTerminated12 Months48 MonthsAll17Phase 2United States;France;Germany;Italy;Netherlands;Spain;United Kingdom
29EUCTR2014-003960-20-ES
(EUCTR)
18/02/201526/01/2015An Extension Study to Evaluate the Safety and Efficacy of HGT-1410 Administration in Pediatric Patients with Sanfilippo Syndrome Type AA Open-Label Extension of Study HGT-SAN-093 Evaluating theSafety and Efficacy Study of HGT-1410 (Recombinant HumanHeparan N Sulfatase) Administration via an Intrathecal DrugDelivery Device in Pediatric Patients with MucopolysaccharidosisType IIIA Disease Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA)
MedDRA version: 17.1;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 17.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Recombinant human heparan N-sulfatase (rhHNS)
Product Code: HGT-1410
INN or Proposed INN: Not available
Other descriptive name: Recombinant human heparan N-sulfatase
Shire human Genetic Therapies, Inc.NULLNot RecruitingFemale: yes
Male: yes
18Phase 2France;United States;Argentina;Spain;Netherlands;Germany;Italy;United Kingdom
30EUCTR2013-003450-24-IT
(EUCTR)
11/09/201409/05/2014Safety and Efficacy Study of HGT-1410 Administration in Pediatric Patients with Early Stage of Sanfilippo Syndrome Type AA Randomized, Controlled, Open-label, Multicenter, Phase IIb Safety and Efficacy Study of HGT-1410 (Recombinant Human Heparan N Sulfatase) Administration via an Intrathecal Drug Delivery Device in Pediatric Patients with Early Stage Mucopolysaccharidosis Type III A Disease Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA)
MedDRA version: 17.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 17.0;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Recombinant human heparan N-sulfatase (rhHNS)
Product Code: HGT-1410
INN or Proposed INN: Not available
Other descriptive name: Recombinant human heparan N-sulfatase
Shire Human Genetic Therapies, IncNULLNot RecruitingFemale: yes
Male: yes
18Phase 2France;Spain;Netherlands;Germany;United Kingdom;Italy
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
31NCT02254863
(ClinicalTrials.gov)
September 201423/9/2014UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like CellsAugmentation of Umbilical Cord Blood Transplantation for Inherited Metabolic Diseases With Intrathecal Administration of Human Umbilical Cord Blood-Derived Oligodendrocyte-Like CellsAdrenoleukodystrophy;Batten Disease;Mucopolysaccharidosis II;Leukodystrophy, Globoid Cell;Leukodystrophy, Metachromatic;Neimann Pick Disease;Pelizaeus-Merzbacher Disease;Sandhoff Disease;Tay-Sachs Disease;Brain Diseases, Metabolic, Inborn;Alpha-Mannosidosis;Sanfilippo MucopolysaccharidosesBiological: DUOC-01Joanne Kurtzberg, MDThe Marcus FoundationRecruitingN/A22 YearsAll12Phase 1United States
32JPRN-UMIN000023094
2014/08/0110/07/2016A study on the safety and efficacy of cyclodextrin intrathecal administration in Niemann-Pick disease type C Niemann-Pick disease type C2-hydroxypropyl-beta-cyclodextrin (HPBCD) 5-20mg/kg, every 4 weeks, for two yearsNara Medical UniversitySaga UniversityKumamoto UniversityComplete: follow-up continuing1years-old25years-oldMale and Female1Not selectedJapan
33EUCTR2012-003775-20-CZ
(EUCTR)
06/06/201414/02/2014A safety and efficacy extension of study HGT-MLD-070 in Children with Metachromatic Leukodystrophy recieving enzyme (HGT-1110) replacement by intrathecal injectionAn Open-label Extension of Study HGT-MLD-070 Evaluating Long Term Safety and Efficacy of Intrathecal Administration of HGT-1110 in Patients with Metachromatic Leukodystrophy Treatment of Metachromatic Leukodystrophy
MedDRA version: 20.0;Level: PT;Classification code 10067609;Term: Metachromatic leukodystrophy;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: SHP611
INN or Proposed INN: Not available
Other descriptive name: Recombinant Human Arylsulfatase A (rhASA)
Shire Human Genetics Therapies IncNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
24Phase 1;Phase 2France;Czech Republic;Brazil;Denmark;Australia;Germany;United Kingdom;Japan;Italy
34EUCTR2013-003450-24-DE
(EUCTR)
09/04/201407/11/2013Safety and Efficacy Study of HGT-1410 Administration in Pediatric Patients with Early Stage of Sanfilippo Syndrome Type AA Randomized, Controlled, Open-label, Multicenter, Phase IIb Safety and Efficacy Study of HGT-1410 (Recombinant Human Heparan N Sulfatase) Administration via an Intrathecal Drug Delivery Device in Pediatric Patients with Early Stage Mucopolysaccharidosis Type III A Disease Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA)
MedDRA version: 17.1;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 17.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Recombinant human heparan N-sulfatase (rhHNS)
Product Code: HGT-1410
INN or Proposed INN: Not available
Other descriptive name: Recombinant human heparan N-sulfatase
Shire Human Genetic Therapies, IncNULLNot RecruitingFemale: yes
Male: yes
18Phase 2France;United States;Argentina;Brazil;Spain;Netherlands;Germany;Italy;United Kingdom
35EUCTR2013-003450-24-NL
(EUCTR)
03/03/201421/11/2013Safety and Efficacy Study of HGT-1410 Administration in Pediatric Patients with Early Stage of Sanfilippo Syndrome Type AA Randomized, Controlled, Open-label, Multicenter, Phase IIb Safety and Efficacy Study of HGT-1410 (Recombinant Human Heparan N Sulfatase) Administration via an Intrathecal Drug Delivery Device in Pediatric Patients with Early Stage Mucopolysaccharidosis Type III A Disease Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA)
MedDRA version: 17.1;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 17.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Recombinant human heparan N-sulfatase (rhHNS)
Product Code: HGT-1410
INN or Proposed INN: Not available
Other descriptive name: Recombinant human heparan N-sulfatase
Shire Human Genetic Therapies, IncNULLNot RecruitingFemale: yes
Male: yes
18Phase 2France;United States;Argentina;Spain;Germany;Netherlands;Italy;United Kingdom
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
36NCT02060526
(ClinicalTrials.gov)
February 26, 201410/2/2014Randomized, Controlled, Open-label, Multicenter, Safety and Efficacy Study of rhHNS Administration Via an IDDD in Pediatric Patients With Early Stage MPS IIIA DiseaseA Randomized, Controlled, Open-label, Multicenter, Phase IIb Safety and Efficacy Study of rhHNS (Recombinant Human Heparan N Sulfatase) Administration Via an Intrathecal Drug Delivery Device in Pediatric Patients With Early Stage Mucopolysaccharidosis Type IIIA DiseaseSanfilippo SyndromeDrug: Recombinant human heparan N-sulfatase [rhHNS]ShireNULLCompleted12 Months48 MonthsAll21Phase 2United States;Argentina;France;Germany;Italy;Netherlands;Spain;United Kingdom
37EUCTR2013-003450-24-ES
(EUCTR)
16/01/201412/11/2013Safety and Efficacy Study of HGT-1410 Administration in Pediatric Patients with Early Stage of Sanfilippo Syndrome Type AA Randomized, Controlled, Open-label, Multicenter, Phase IIb Safety and Efficacy Study of HGT-1410 (Recombinant Human Heparan N Sulfatase) Administration via an Intrathecal Drug Delivery Device in Pediatric Patients with Early Stage Mucopolysaccharidosis Type III A Disease Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA)
MedDRA version: 14.1;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 14.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: heparán N sulfatasa humana recombinante (rhHNS)
Product Code: HGT-1410
INN or Proposed INN: No disponible
Other descriptive name: Heparán N sulfatasa humana recombinante
Shire Human Genetic Therapies, IncNULLNot RecruitingFemale: yes
Male: yes
18Phase 2France;United States;Argentina;Spain;Germany;Netherlands;Italy;United Kingdom
38EUCTR2013-003450-24-GB
(EUCTR)
08/01/201408/11/2013Safety and Efficacy Study of HGT-1410 Administration in Pediatric Patients with Early Stage of Sanfilippo Syndrome Type AA Randomized, Controlled, Open-label, Multicenter, Phase IIb Safety and Efficacy Study of HGT-1410 (Recombinant Human Heparan N Sulfatase) Administration via an Intrathecal Drug Delivery Device in Pediatric Patients with Early Stage Mucopolysaccharidosis Type III A Disease Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA)
MedDRA version: 19.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 19.0;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Shire Human Genetic Therapies, IncNULLNot Recruiting Female: yes
Male: yes
18Phase 2France;United States;Argentina;Brazil;Spain;Netherlands;Germany;Italy;United Kingdom
39NCT03300453
(ClinicalTrials.gov)
September 17, 201315/6/2016Intracerebral Gene Therapy in Children With Sanfilippo Type B SyndromeProtocol AMT110-CD-001: A Phase I/II, Open-label, Study of Intracerebral Administration of Adeno-associated Viral Vector Containing the Human Alpha-N-acetylglucosaminidase cDNA in Children With Sanfilippo Type B SyndromeSanfilippo Syndrome BDrug: rAAV2/5-hNAGLUUniQure Biopharma B.V.Venn Life Sciences;Institut PasteurCompleted18 Months60 MonthsAll4Phase 1;Phase 2France
40EUCTR2012-003775-20-DE
(EUCTR)
11/09/201314/12/2012A safety and efficacy extension of study HGT-MLD-070 in Children with Metachromatic Leukodystrophy recieving enzyme (HGT-1110) replacement by intrathecal injectionAn Open-label Extension of Study HGT-MLD-070 Evaluating Long Term Safety and Efficacy of Intrathecal Administration of HGT-1110 in Patients with Metachromatic Leukodystrophy Treatment of Metachromatic Leukodystrophy
MedDRA version: 20.0;Level: PT;Classification code 10067609;Term: Metachromatic leukodystrophy;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Code: SHP611
INN or Proposed INN: Not available
Other descriptive name: Recombinant Human Arylsulfatase A (rhASA)
Shire Human Genetics Therapies IncNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
24Phase 1;Phase 2France;Czech Republic;Brazil;Denmark;Australia;Germany;Japan;Italy;United Kingdom
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
41NCT01887938
(ClinicalTrials.gov)
May 23, 201320/6/2013An Efficacy and Safety Study of HGT-1110 in Participants With Metachromatic LeukodystrophyAn Open-Label Extension of Study HGT-MLD-070 Evaluating Long Term Safety and Efficacy of Intrathecal Administration of HGT-1110 in Patients With Metachromatic LeukodystrophyMetachromatic Leukodystrophy (MLD)Biological: HGT-1110ShireNULLActive, not recruitingN/A13 YearsAll24Phase 1;Phase 2Australia;Brazil;Czechia;Denmark;France;Germany;Japan;Argentina;Czech Republic
42EUCTR2012-003775-20-DK
(EUCTR)
30/04/201321/12/2012A safety and efficacy extension of study HGT-MLD-070 in Children with Metachromatic Leukodystrophy recieving enzyme (HGT-1110) replacement by intrathecal injectionAn Open-label Extension of Study HGT-MLD-070 Evaluating Long Term Safety and Efficacy of Intrathecal Administration of HGT-1110 in Patients with Metachromatic Leukodystrophy Treatment of Metachromatic Leukodystrophy
MedDRA version: 20.0;Level: PT;Classification code 10067609;Term: Metachromatic leukodystrophy;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Code: SHP611
INN or Proposed INN: Not available
Other descriptive name: Recombinant Human Arylsulfatase A (rhASA)
Shire Human Genetics Therapies IncNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
24Phase 1;Phase 2France;Czechia;Czech Republic;Brazil;Australia;Denmark;Germany;United Kingdom;Japan;Italy
43EUCTR2011-004410-42-FR
(EUCTR)
26/11/201219/12/2012Intracerebral Gene Therapy for MLDA phase I/II, open labeled, monocentric study of direct intracranial administration of a replication deficient adeno-associated virus gene transfer vector serotype rh.10 expressing the human ARSA cDNA to children with metachromatic leukodystrophy - Intracerebral Gene Therapy for MLD Early onset forms of MLD
MedDRA version: 14.1;Level: SOC;Classification code 10029205;Term: Nervous system disorders;System Organ Class: 10029205 - Nervous system disorders
MedDRA version: 14.1;Level: PT;Classification code 10067609;Term: Metachromatic leukodystrophy;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 14.1;Classification code 10027433;Term: Metabolism and nutrition disorders;System Organ Class: 10027433 - Metabolism and nutrition disorders;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
Product Name: AAVrh.10cuARSA
Product Code: Non applicable
InsermNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
Phase 1;Phase 2France
44NCT01173016
(ClinicalTrials.gov)
May 29, 201228/7/2010Administration of IV Laronidase Post Bone Marrow Transplant in HurlerPilot Study of Administration of Intravenous Laronidase Following Allogeneic Transplantation for Hurler SyndromeHurler SyndromeDrug: LaronidaseMasonic Cancer Center, University of MinnesotaNULLCompletedN/A14 YearsAll11Phase 1United States
45NCT01730482
(ClinicalTrials.gov)
August 20118/11/2012A Study to Assess the Absorption, Metabolism and Excretion of Migalastat Hydrochloride (AT1001-014)A Phase 1 Study to Investigate the Absorption, Metabolism and Excretion of [14C] AT1001 (Migalastat Hydrochloride) Following a Single Oral Administration in Healthy Volunteers (AT1001-014)Fabry DiseaseDrug: [14C] AT1001Amicus TherapeuticsNULLCompleted30 Years55 YearsMale6Phase 1NULL
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
46NCT01299727
(ClinicalTrials.gov)
March 1, 201116/2/2011Extension of Study HGT-SAN-055 Evaluating Administration of rhHNS in Patients With Sanfilippo Syndrome Type A (MPS IIIA)An Open-Label Extension of Study HGT-SAN-055 Evaluating Long Term Safety and Clinical Outcomes of Intrathecal Administration of rhHNS in Patients With Sanfilippo Syndrome Type A (MPS IIIA)Sanfilippo SyndromeBiological: rhHNS-10 mg;Biological: rhHNS-45 mg;Biological: rhHNS-90 mgShireNULLTerminated3 YearsN/AAll12Phase 1;Phase 2Netherlands;United Kingdom
47EUCTR2010-021348-16-NL
(EUCTR)
17/02/201109/02/2011Safety, Tolerability, Ascending Dose and Dose Frequency Study of rhHNS Via an IDDD in MPS IIIA PatientsAn Open-Label Extension of Study HGT-SAN-055 Evaluating Long Term Safety and Clinical Outcomes of Intrathecal Administration of rhHNS in Patients with Sanfilippo Syndrome Type A (MPS IIIA) Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA)
MedDRA version: 19.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 19.0;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Recombinant human heparan N-sulfatase (rhHNS)
Product Code: HGT-1410
INN or Proposed INN: Not available
Other descriptive name: Recombinant human heparan N-sulfatase
Shire Human Genetic Therapies, IncNULLNot RecruitingFemale: yes
Male: yes
12Phase 1;Phase 2Netherlands;United Kingdom
48EUCTR2010-021348-16-GB
(EUCTR)
09/02/201120/12/2010Extension of Study HGT-SAN-055 Evaluating Administration of rhHNS in Patients With Sanfilippo Syndrome Type A (MPS IIIA)An Open-Label Extension of Study HGT-SAN-055 Evaluating Long Term Safety and Clinical Outcomes of Intrathecal Administration of rhHNS in Patients with Sanfilippo Syndrome Type A (MPS IIIA) Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA)
MedDRA version: 19.1;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 19.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Recombinant human heparan N-sulfatase (rhHNS)
Product Code: HGT-1410
INN or Proposed INN: Not available
Other descriptive name: Recombinant human heparan N-sulfatase
Shire Human Genetic Therapies, IncNULLNot RecruitingFemale: yes
Male: yes
7Phase 1;Phase 2Netherlands;United Kingdom
49NCT01161576
(ClinicalTrials.gov)
August 201022/3/2010Safety Study of a Gene Transfer Vector (Rh.10) for Children With Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL)Direct CNS Administration of a Replication Deficient Adeno-associated Virus Gene Transfer Vector Serotype rh.10 Expressing the Human CLN2 cDNA to Children With Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL)Batten Disease;Late-Infantile Neuronal Ceroid LipofuscinosisBiological: AAVrh.10CUhCLN2 vector 9.0x10^11 genome copies;Biological: AAVrh.10CUhCLN2 vector 2.85x10^11 genome copiesWeill Medical College of Cornell UniversityNational Institutes of Health (NIH)Active, not recruiting2 Years18 YearsAll25Phase 1United States
50NCT01155778
(ClinicalTrials.gov)
June 1, 201024/6/2010Safety, Tolerability, Ascending Dose and Dose Frequency Study of rhHNS Via an IDDD in MPS IIIA PatientsA Phase I/II Safety, Tolerability, Ascending Dose and Dose Frequency Study of Recombinant Human Heparan N-Sulfatase (rhHNS) Intrathecal Administration Via an Intrathecal Drug Delivery Device in Patients With Sanfilippo Syndrome Type A (MPS IIIA)Mucopolysaccharidosis (MPS)Biological: Recombinant human heparan N-sulfatase (rhHNS)ShireNULLCompleted3 YearsN/AAll12Phase 1;Phase 2Netherlands;United Kingdom
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
51NCT01414985
(ClinicalTrials.gov)
April 15, 201013/12/2010AAVRh.10 Administered to Children With Late Infantile Neuronal Ceroid LipofuscinosisDirect CNS Administration of a Replication Deficient Adeno-associated Virus Gene Transfer Vector Serotype rh.10 Expressing the Human CLN2 cDNA to Children With LINCL With Uncommon Genotypes and/or Moderate to Severe ImpairmentLate Infantile Neuronal Ceroid Lipofuscinosis;Batten DiseaseBiological: AAVrh.10CUCLN2Weill Medical College of Cornell UniversityNULLCompleted3 Years18 YearsAll8Phase 1;Phase 2United States
52EUCTR2009-015984-15-GB
(EUCTR)
25/03/201017/03/2010A Phase I/II Safety, Tolerability, Ascending Dose and Dose Frequency Study of Recombinant Human Heparan-N-sulfatase (rhHNS) Intrathecal Administration via an Intrathecal Drug Delivery Device in Patients With Sanfilippo Syndrome Type A (MPS IIIA)A Phase I/II Safety, Tolerability, Ascending Dose and Dose Frequency Study of Recombinant Human Heparan-N-sulfatase (rhHNS) Intrathecal Administration via an Intrathecal Drug Delivery Device in Patients With Sanfilippo Syndrome Type A (MPS IIIA) Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA)
MedDRA version: 14.0;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 14.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Shire Human Genetic Therapies, Inc. (Shire HGT)NULLNot Recruiting Female: yes
Male: yes
15Phase 1;Phase 2United Kingdom
53NCT00920647
(ClinicalTrials.gov)
November 1, 200912/6/2009A Safety and Dose Ranging Study of Idursulfase (Intrathecal) Administration Via an Intrathecal Drug Delivery Device in Pediatric Patients With Hunter Syndrome Who Have Central Nervous System Involvement and Are Receiving Treatment With Elaprase®A Phase I/II, Randomized, Safety and Ascending Dose Ranging Study of Intrathecal Idursulfase-IT Administered in Conjunction With Intravenous Elaprase in Pediatric Patients With Hunter Syndrome and Cognitive ImpairmentHunter SyndromeOther: Control;Drug: Idursulfase IT (1 mg);Drug: Idursulfase IT (10 mg);Drug: Idursulfase IT (30 mg)ShireNULLCompleted3 Years18 YearsMale16Phase 1;Phase 2United States;United Kingdom
54EUCTR2007-005516-61-IT
(EUCTR)
06/02/200923/03/2009Multicenter randomized study to assess the efficacy and the safety of two therapeutic regimens(high dose of imiglucerase versus co-administration of imiglucerase and miglustat) in type I Gaucher disease patients who have not responded to previous treatment with low dose imiglucerase - NDMulticenter randomized study to assess the efficacy and the safety of two therapeutic regimens(high dose of imiglucerase versus co-administration of imiglucerase and miglustat) in type I Gaucher disease patients who have not responded to previous treatment with low dose imiglucerase - ND GAUCHER disease
MedDRA version: 9.1;Level: LLT;Classification code 10018048;Term: Gaucher's disease
Trade Name: CEREZYME
INN or Proposed INN: Imiglucerase
Trade Name: ZAVESCA
INN or Proposed INN: Miglustat
ISTITUTO GIANNINA GASLININULLNot RecruitingFemale: yes
Male: yes
Italy
55NCT00151216
(ClinicalTrials.gov)
June 20046/9/2005Safety Study of a Gene Transfer Vector for Children With Late Infantile Neuronal Ceroid LipofuscinosisAdministration of a Replication Deficient Adeno-associated Virus Gene Transfer Vector Expressing the Human CLN2 cDNA to the Brain of Children With Late Infantile Neuronal Ceroid LipofuscinosisBatten Disease;Late Infantile Neuronal Ceroid LipofuscinosisBiological: AAV2CUhCLN2 (3x10^12 particle units)Weill Medical College of Cornell UniversityNathan's Battle FoundationCompleted3 Years18 YearsAll10Phase 1United States
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
56EUCTR2010-019962-10-FR
(EUCTR)
19/11/2010AN OPEN-LABEL, SINGLE ARM, MONOCENTRIC, PHASE I/II CLINICAL STUDY OF INTRACEREBRAL ADMINISTRATION OF ADENO-ASSOCIATED VIRAL VECTORS SEROTYPE 10 CARRYING THE HUMAN SGSH AND SUMF1 cDNAS FOR THE TREATMENT OF SANFILIPPO TYPE A SYNDROME - Intracerebral Gene therapy for Sanfilippo type A syndromeAN OPEN-LABEL, SINGLE ARM, MONOCENTRIC, PHASE I/II CLINICAL STUDY OF INTRACEREBRAL ADMINISTRATION OF ADENO-ASSOCIATED VIRAL VECTORS SEROTYPE 10 CARRYING THE HUMAN SGSH AND SUMF1 cDNAS FOR THE TREATMENT OF SANFILIPPO TYPE A SYNDROME - Intracerebral Gene therapy for Sanfilippo type A syndrome Sanfilippo type A syndrome (also named Mucopolysaccharidosis Type A)
MedDRA version: 12.1;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome
Product Name: AAVrh.10-hMPSIIIA
Product Code: SAF-301
SANFILIPPO Therapeutics SASNULLNot RecruitingFemale: yes
Male: yes
4Phase 1;Phase 2France
57EUCTR2013-003450-24-FR
(EUCTR)
29/09/2015Safety and Efficacy Study of HGT-1410 Administration in Pediatric Patients with Early Stage of Sanfilippo Syndrome Type AA Randomized, Controlled, Open-label, Multicenter, Phase IIb Safety and Efficacy Study of HGT-1410 (Recombinant Human Heparan N Sulfatase) Administration via an Intrathecal Drug Delivery Device in Pediatric Patients with Early Stage Mucopolysaccharidosis Type III A Disease Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA)
MedDRA version: 18.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 18.0;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Recombinant human heparan N-sulfatase (rhHNS)
Product Code: HGT-1410
INN or Proposed INN: Not available
Other descriptive name: Recombinant human heparan N-sulfatase
Shire Human Genetic Therapies, IncNULLNAFemale: yes
Male: yes
18Phase 2United States;France;Argentina;Brazil;Spain;Netherlands;Germany;Italy;United Kingdom
58EUCTR2012-003775-20-FR
(EUCTR)
27/06/2013A safety and efficacy extension of study HGT-MLD-070 in Children with Metachromatic Leukodystrophy recieving enzyme (HGT-1110) replacement by intrathecal injectionAn Open-label Extension of Study HGT-MLD-070 Evaluating Long Term Safety and Efficacy of Intrathecal Administration of HGT-1110 in Patients with Metachromatic Leukodystrophy Treatment of Metachromatic Leukodystrophy
MedDRA version: 16.0;Level: PT;Classification code 10067609;Term: Metachromatic leukodystrophy;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Code: HGT-1110
INN or Proposed INN: Not available
Other descriptive name: Recombinant Human Arylsulfatase A (rhASA)
Shire Human Genetics Therapies IncNULLNAFemale: yes
Male: yes
18Phase 1;Phase 2France;Czech Republic;Argentina;Brazil;Denmark;Australia;Germany;United Kingdom
59EUCTR2014-003960-20-FR
(EUCTR)
25/06/2015An Extension Study to Evaluate the Safety and Efficacy of HGT-1410 Administration in Pediatric Patients with Sanfilippo Syndrome Type A A Open-Label Extension of Study HGT-SAN-093 Evaluating the Safety and Efficacy Study of HGT-1410 (Recombinant Human Heparan N Sulfatase) Administration via an Intrathecal Drug Delivery Device in Pediatric Patients with Mucopolysaccharidosis Type IIIA Disease Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA)
MedDRA version: 18.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 18.0;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Shire human Genetic Therapies, Inc.NULLNot Recruiting Female: yes
Male: yes
18Phase 2United States;France;Argentina;Spain;Netherlands;Germany;Italy;United Kingdom
60EUCTR2012-000856-33-FR
(EUCTR)
15/05/2014Intracerebral Gene therapy in children with Sanfilippo type B syndromeA phase I/II, open-label, study of intracerebral administration of adeno-associated viral vector containing the human alpha-N-acetylglucosaminidase cDNA in children with Sanfilippo type B syndrome Mucopolysaccharidosis III B
MedDRA version: 17.0;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: rAAV2/5-hNaGluInstitut PasteurNULLNAFemale: yes
Male: yes
Phase 1;Phase 2France
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
61EUCTR2019-002936-97-DE
(EUCTR)
08/01/2020A Long-term Follow-up Study of Patients with MPS IIIB from Gene Therapy Clinical Trials Involving the Administration of ABO-101 (rAAV9.CMV.hNAGLU)A Long-term Follow-up Study of Patients with MPS IIIB from Gene Therapy Clinical Trials Involving the Administration of ABO-101 (rAAV9.CMV.hNAGLU) MPS IIIB is a devastating lysosomal storage disease, caused by a N-a-acetylglucosaminidase (NAGLU) gene defect. Infants with MPS IIIB appear normal at birth, but the disease is relentlessly progressive, with deterioration of social and adaptive abilities, neurocognitive decline, and premature death. Death typically occurs by end of the second or beginning of the third decade. Quite importantly, there is no treatment currently available for the disease.
MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: rAAV9.CMV.hNAGLU
Product Code: ABO-101
INN or Proposed INN: rAAV9.CMV.hNAGLU
Other descriptive name: Adeno-associated viral vector serotype 9 containing the human N-acetyl-alpha-glucosaminidase gene
Abeona Therapeutics Europe SL.NULLNAFemale: yes
Male: yes
24Phase 1;Phase 2United States;France;Spain;Germany
62EUCTR2017-002158-35-FR
(EUCTR)
07/03/2018Study to investigate the fate of odiparcil since its administration up to the point is completely eliminated, its safety and efficacy in patients 16 years and above with mucopolysaccharidosis (MPS) type VIA phase IIa study to investigate safety, Pharmacokinetics, and efficacy of odiparcil in patients 16 years and above with mucopolysaccharidosis (MPS) type VI. - iMProveS Mucopolysaccharidosis (MPS) type VI.
MedDRA version: 20.1;Level: PT;Classification code 10028095;Term: Mucopolysaccharidosis IV;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Inventiva S.A.NULLNot Recruiting Female: yes
Male: yes
24Phase 2Portugal;France;Germany;United Kingdom